Purpose: To examine the effect of a communication intervention package on expressive communication and visual attention in individuals with Rett syndrome.
Materials And Methods: A modified withdrawal (A-B1-A1-B2-A2) single case experimental design with a direct inter-subject replication across three participants was applied. Three women with Rett syndrome participated. The study took place over a six-week period and comprised 32 sessions with each participant. All sessions were video recorded. During the intervention the communication partner used aided language modelling on a gaze-controlled device in combination with using responsive partner strategies. Expressive communication was assessed as synthesised words per minute and unique synthesised words per minute. Visual attention was assessed as rate of focused gazes (1 s or longer) in interaction.
Results: An intervention effect was found on the rate of unique words for all participants. The rate of words increased for two participants when the intervention was introduced but no withdrawal effect could be seen. An intervention effect on visual attention could be seen for one participant. The intervention appeared to have social validity as reported by caregivers.
Conclusion: Aided language modelling (ALM), while using responsive partner strategies and a gaze-controlled device may be used with adult individuals with Rett syndrome to increase their rate of expressive communication. Detailed observational measures revealed individual learning patterns, which may provide clinically valuable insights.Implications for RehabilitationAdults with Rett syndrome may benefit from access to gaze-controlled devices in combination with responsive partner strategies.Responsive partner communication may be effective for some individuals with Rett syndrome to increase their rate of synthesised utterances.Rate of focused gazes may be considered as an outcome measure for individuals with oculomotor difficulties when introducing aided language modelling.
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http://dx.doi.org/10.1080/17483107.2021.1967469 | DOI Listing |
J Neurodev Disord
January 2025
Rett Syndrome Research Trust, Trumbull, CT, USA.
Background: Preclinical studies and anecdotal case reports support the potential therapeutic benefit of low-dose oral ketamine as a treatment of clinical symptoms in Rett syndrome (RTT); however, no controlled studies have been conducted in RTT to evaluate safety, tolerability and efficacy.
Design: This was a sequentially initiated, dose-escalating cohort, placebo-controlled, double blind, randomized sequence, cross-over study of oral ketamine in 6-12-year-old girls with RTT to evaluate short-term safety and tolerability and explore efficacy.
Methods: Participants were randomized to either five days treatment with oral ketamine or matched placebo, followed by a nine-day wash-out period and then crossed-over to the opposite treatment.
BMJ Case Rep
January 2025
Paediatrics, King George's Medical College, Lucknow, Uttar Pradesh, India.
We present the case of a toddler displaying neuroregression post-acute gastroenteritis, initially suggesting neurodegenerative disorders. Further investigations showed atypical results-neuroimaging was inconsistent with suspected disorders, while fundus evaluation, evoked potentials and nerve conduction velocity were normal. Specialised tests using gas chromatography mass spectrometry and tandem mass spectrometry identified methylmalonic acidaemia (MMA), implicating abnormal neurometabolism.
View Article and Find Full Text PDFEpilepsy Res
January 2025
Institute of Neurobiology, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, 76 West Yanta Road, Xi'an City 710061, China; Institute of Neuroscience, Translational Medicine Institute, Xi'an Jiaotong University Health Science Center, 76 West Yanta Road, Xi'an City 710061, China. Electronic address:
Mutations in methyl CpG binding protein 2 (MeCP2) are linked to Rett syndrome, in which epilepsy is one of the most well-described disorders. However, little is known about the specific role of MeCP2 during epileptogenesis. Our previous study has demonstrated that MeCP2 has a unique control on the development of mossy fiber sprouting (MFS) in the epileptic hippocampus.
View Article and Find Full Text PDFSci Rep
January 2025
Institute of Molecular Biology and Pathology, National Research Council, 00185, Rome, Italy.
Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. How the loss or defective function of MeCP2 mediates RTT is still poorly understood. MeCP2 is a global gene expression regulator, acting at transcriptional and post-transcriptional levels.
View Article and Find Full Text PDFAnn Clin Transl Neurol
January 2025
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved.
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